Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
DLX6	gene	DLX6	Expert list;Expert Review Red	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Split-hand/foot malformation 1 183600			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	28611547		False	1	0;0;100	0.90	True		ENSG00000006377	ENSG00000006377	HGNC:2919													
FBLN1	gene	FBLN1	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	24084572		False	1	0;0;100	0.90	True		ENSG00000077942	ENSG00000077942	HGNC:3600													
FBXW4	gene	FBXW4	Expert list;Expert Review Red	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	Unknown	Split-hand/foot malformation 3 syndrome 246560			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	12913067;16235095;27600068		False	1	0;0;100	0.90	True		ENSG00000107829	ENSG00000107829	HGNC:10847													
IFT57	gene	IFT57	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	?Orofaciodigital syndrome XVIII MIM#617927			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	27060890		False	1	0;0;100	0.90	True		ENSG00000114446	ENSG00000114446	HGNC:17367													
LTBP2	gene	LTBP2	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	Unknown	Weill-Marchesani			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	22539340		False	1	50;0;50	0.90	True		ENSG00000119681	ENSG00000119681	HGNC:6715													
WNT3	gene	WNT3	Expert list;Expert Review Red;Victorian Clinical Genetics Services	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Tetra-amelia syndrome 273395			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	14872406		False	1	0;0;100	0.90	True		ENSG00000108379	ENSG00000108379	HGNC:12782													
DLX5 downstream regulatory region	region	DYNC1I1	Literature;Literature	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Split-hand/foot malformation 1 MIM#183600			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	PMID: 26839112;37916192;26075025;24459211		False	1	100;0;0	0.90	False		ENSG00000158560	ENSG00000158560	HGNC:2963	7			96075000	96100000						70	cnv_loss	DLX5 downstream regulatory region
IHH upstream regulatory region	region		Literature;Literature	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Craniosynostosis, Philadelphia type, with syndactyly, MIM#185900;Syndactyly, type 1, MIM#185900			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	PMID: 21167467		False	1	100;0;0	0.90	False					2			219109600	219115111						70	cnv_gain	IHH upstream regulatory region
PITX1 upstream regulatory region	region		Literature;Literature	Hand and foot malformations		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Liebenberg syndrome, MIM#186550			Abnormal hand morphology;HP:0005922; Abnormal foot morphology;HP:0001760	PMID: 30711920;23022097;25124102;23587911		False	1	100;0;0	0.90	False					5			135302834	135410717						70	cnv_loss	PITX1 upstream regulatory region